{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T09:56:46Z","timestamp":1777802206446,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2011,9,22]],"date-time":"2011-09-22T00:00:00Z","timestamp":1316649600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:p>Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Rett patients present an apparently normal psychomotor development during the first 6 to 18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. In the present study, we performed a mutational analysis of the MECP2 gene in 2 typical Rett syndrome patients and in 1 atypical Rett syndrome girl. The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C&gt;A (p.S355R) and c.1030C&gt;G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C&gt;T (p.S332S) mutation first described in the atypical Rett syndrome patient.<\/jats:p>","DOI":"10.1177\/0883073811420496","type":"journal-article","created":{"date-parts":[[2011,9,22]],"date-time":"2011-09-22T21:35:21Z","timestamp":1316727321000},"page":"564-568","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel Mutations in the C-Terminal Region of the\n                    <i>MECP2<\/i>\n                    Gene in Tunisian Rett Syndrome Patients"],"prefix":"10.1177","volume":"27","author":[{"given":"Nourhene","family":"Fendri-Kriaa","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine, Facult\u00e9 de M\u00e9decine de Sfax, 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